Abstract
IntroductionDifferential diagnosis of thrombotic microangiopathies can be difficult. Atypical hemolytic uremic syndrome is a rare, life-threatening disease caused by uncontrolled chronic activation of alternative complement pathway, resulting in microvascular thrombosis, organ ischemia and damage. Prognosis is poor: up to 65 percent of patients require dialysis or have kidney damage of varying severity or die despite plasma exchange/plasma infusion treatment.Case presentationWe describe the case of a 23-year-old woman of Hellenic origin who, after a preeclampsia-induced premature delivery, developed thrombotic microangiopathy with renal failure, tonicoclonic seizures, anasarca edema and hypertension. Intensive plasma exchange was initiated twice daily, in parallel to dialysis for one month. Three months later, our patient was discharged with nondialysis-dependent renal failure and without signs of hemolysis. Three months after discharge our patient was readmitted with cardiomyopathy (left ventricular ejection fraction of 25 percent) and signs and symptoms of thrombotic microangiopathy. Our patient was diagnosed with atypical hemolytic uremic syndrome and was started on eculizumab (a complement inhibitor), which improved clinical and laboratory parameters. However, a transient pause in treatment resulted in thrombotic microangiopathy relapse, which was rapidly blocked with reintroduction of eculizumab treatment. During long-term eculizumab treatment, thrombotic microangiopathy manifestations were inhibited and renal and cardiac function restored, with no need for other invasive treatments.ConclusionsEstablishing the diagnosis of atypical hemolytic uremic syndrome in patients presenting with thrombotic microangiopathy is challenging since common symptoms are shared with other conditions like Shiga toxin-producing Escherichia coli hemolytic uremic syndrome and thrombotic thrombocytopenic purpura. The described case illustrates the complexity and importance of rapid diagnosis in a rare disease and the need for appropriate and specific treatment for best long-term outcomes.
Highlights
Differential diagnosis of thrombotic microangiopathies can be difficult
Establishing the diagnosis of atypical hemolytic uremic syndrome in patients presenting with thrombotic microangiopathy is challenging since common symptoms are shared with other conditions like Shiga toxin-producing Escherichia coli hemolytic uremic syndrome and thrombotic thrombocytopenic purpura
Management of Thrombotic microangiopathy (TMA) often involves plasma exchange and/or plasma infusion (PE/PI) in an attempt to remove mutant forms and restore functional proteins. It seems to be effective in the management of thrombocytopenic purpura (TTP) [8], outcomes are still poor in atypical hemolytic uremic syndrome (aHUS) and a large percentage of patients still progresses to end-stage renal disease (ESRD) or die at first clinical manifestation of TMA [3,5,6,9]
Summary
The present report described a rare case of aHUS complicated with multiple organ damage. Establishing the diagnosis of aHUS in patients presenting with TMA is challenging since common symptoms are shared with other conditions like STEC-HUS and TTP. Sustained eculizumab treatment has managed in our case to rapidly block complement activation, reverse renal impairment and longitudinally attenuate organ ischemia and damage, while PE treatment failed to reverse TMA. Authors’ contributions AK made substantial contribution to conception and design, acquisition of data, analysis and interpretation of data. IA made substantial contribution to conception and design, acquisition of data, analysis and interpretation of data. MZ made substantial contribution to conception and design, acquisition of data, analysis and interpretation of data and gave final approval of the version to be published.
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